Variant report

Variant	rs59593611
Chromosome Location	chr5:124375580-124375581
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs55699975	1.00[ASN][1000 genomes]
rs55933200	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56369925	1.00[ASN][1000 genomes]
rs56752946	1.00[ASN][1000 genomes]
rs58473632	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59435469	1.00[ASN][1000 genomes]
rs61267266	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62372837	1.00[ASN][1000 genomes]
rs6595570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6869617	0.89[EUR][1000 genomes]
rs6872503	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6876152	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6888980	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6894808	1.00[ASN][1000 genomes]
rs7728857	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7729016	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9327348	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882822	chr5:124250018-124449375	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830474	chr5:124263628-124431299	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124363400-124377600	Weak transcription	Fetal Kidney	kidney
2	chr5:124365400-124379400	Weak transcription	Pancreas	Pancrea
3	chr5:124370600-124377400	Weak transcription	Stomach Mucosa	stomach
4	chr5:124371200-124376600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:124371400-124376400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr5:124371400-124377200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:124371600-124379600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr5:124373400-124376800	Weak transcription	Dnd41	blood
9	chr5:124374400-124379200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:124375000-124377400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr5:124375000-124379600	Weak transcription	Fetal Thymus	thymus

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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